Professor Verena Keitel-Anselmino, one of Europe’s leading specialists in cholestatic liver diseases, delivered a new session of the Santander Biomedical Lectures program, organized by the Marqués de Valdecilla Research Institute (IDIVAL). During her talk, titled Challenges in the diagnosis and treatment of genetic cholestasis, she examined the challenges posed by the diagnosis of these conditions and the new therapeutic options that are transforming their clinical management.
A full professor at the Otto-von-Guericke University Hospital in Magdeburg (Germany), Keitel-Anselmino leads a translational research program focused on hereditary cholestatic liver diseases and coordinates the German HiChol network. She is also one of the main authors of the European guidelines on genetic cholestatic liver diseases and has published more than 230 scientific papers.
The session was introduced by researchers Álvaro Díaz and Marta Alonso, a researcher at the University of Cantabria and IDIVAL, who highlighted the mentorship role the German professor has played in her scientific career and expressed her gratitude for Keitel-Anselmino’s willingness to participate in this scientific series.
During her lecture, Keitel-Anselmino explained that many genetically driven liver diseases continue to go unnoticed in adult patients because their clinical manifestations can be mistaken for more common conditions. “Today we know that there are far more genetic cholestasis cases in adults than we believed a few years ago,” she noted.
The researcher emphasized the importance of correctly interpreting certain analytical parameters to suspect a genetic origin of the disease and advocated for the incorporation of genetic studies in cases where the diagnosis remains inconclusive through standard tests.
Through several clinical cases, she showed how some patients initially diagnosed with other liver diseases actually presented hereditary alterations in genes involved in bile transport. These findings, she explained, make it possible to provide a more accurate diagnosis and better tailor treatment.
The lecture also highlighted the significant changes taking place in the treatment of these diseases. After decades with very limited options, new drugs are now being developed that can reduce the accumulation of bile acids in the liver and slow the progression of liver damage.
She also reviewed some of the most promising lines of research, including gene editing, the development of molecules that restore the function of altered proteins, and new targeted therapies that could transform the treatment of these rare diseases in the coming years.
The specialist underscored the value of translational research, which combines laboratory work with clinical practice to better understand these diseases and move toward increasingly personalized medicine.
